Benign familial neonatal seizures
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Benign familial neonatal epilepsy Benign familial neonatal convulsions |
| Number of Symptoms | 14 |
| OrphanetNr: | 1949 |
| OMIM Id: |
121200
121201 269720 608217 |
| ICD-10: |
G40.3 |
| UMLs: |
C0220669 C2930911 |
| MeSH: |
C535466 D020936 |
| MedDRA: |
10067866 |
| Snomed: |
230410004 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Familial partial epilepsy
-Rare genetic disease -Rare neurologic disease Neonatal epilepsy syndrome -Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
|
|
(HPO:0001263) | Global developmental delay | rare [HPO:skoehler] | 853 / 7739 | |||
|
|
(HPO:0001270) | Motor delay | rare [HPO:skoehler] | 322 / 7739 | |||
|
|
(HPO:0002266) | Focal clonic seizures | 3 / 7739 | ||||
|
|
(HPO:0002069) | Generalized tonic-clonic seizures | 96 / 7739 | ||||
|
|
(HPO:0002411) | Myokymia | 10 / 7739 | ||||
|
|
(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
|
|
(HPO:0002373) | Febrile seizures | Occasional [HPO:probinson] | 37 / 7739 | |||
|
|
(HPO:0003623) | Neonatal onset | 22 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | rare [HPO:skoehler] | 2538 / 7739 | |||
|
|
(HPO:0003812) | Phenotypic variability | 129 / 7739 | ||||
|
|
(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 | |||
|
|
(HPO:0001425) | Heterogeneous | 132 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|